{"doi":"10.1007/s10875-024-01749-y","title":"HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum","abstract":null,"journal":"Journal of Clinical Immunology","year":2024,"id":685329,"datarank":0.3453877639491069,"base_score":2.302585092994046,"endowment":2.302585092994046,"self_citation_contribution":0.3453877639491069,"citation_network_contribution":0.0,"self_endowment_contribution":0.3453877639491069,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":9,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":502661,"name":"William Mitchell","orcid":"0000-0002-2122-6741","position":1,"is_corresponding":false},{"id":378233,"name":"Deepak Kumar","orcid":"0000-0003-1728-484X","position":2,"is_corresponding":false},{"id":1037066,"name":"Sakshi Malik","orcid":"0000-0002-9586-0892","position":3,"is_corresponding":false},{"id":263444,"name":"Suhag Parikh","orcid":"0000-0002-6066-9852","position":4,"is_corresponding":false},{"id":1790480,"name":"Ahmed A. Aljudi","orcid":null,"position":5,"is_corresponding":false},{"id":282785,"name":"Sharon M. Castellino","orcid":"0000-0001-8367-2002","position":6,"is_corresponding":false},{"id":263442,"name":"Shanmuganathan Chandrakasan","orcid":"0000-0001-8007-9932","position":7,"is_corresponding":false},{"id":1790479,"name":"Klevi Golloshi","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum","abstract":"Magnesium transporter 1 (MAGT1) gene loss-of-function variants lead to X-linked MAGT1 deficiency with increased susceptibility to EBV infection and N-glycosylation defect (XMEN), a condition with a variety of clinical and immunological effects. In addition, MAGT1 deficiency has been classified as a congenital disorder of glycosylation (CDG) due to its unique role in glycosylation of multiple substrates including NKG2D, necessary for viral protection. Due to the predisposition for EBV, this etiology has been linked with hemophagocytic lymphohistiocytosis (HLH), however only limited literature exists. Here we present a complex case with HLH and EBV-driven classic Hodgkin lymphoma (cHL) as the presenting manifestation of underlying immune defect. However, the patient's underlying immunodeficiency was not identified until his second recurrence of Hodgkin disease, recurrent episodes of Herpes Zoster, and after he had undergone autologous hematopoietic stem cell transplant (HSCT) for refractory Hodgkin lymphoma. This rare presentation of HLH and recurrent lymphomas without some of the classical immune deficiency manifestations of MAGT1 deficiency led us to review the literature for similar presentations and to report the evolving spectrum of disease in published literature. Our systematic review showcased that MAGT1 predisposes to multiple viruses (including EBV) and adds risk of viral-driven neoplasia. The roles of MAGT1 in the immune system and glycosylation were highlighted through the multiple organ dysfunction showcased by the previously validated Immune Deficiency and Dysregulation Activity (IDDA2.1) score and CDG-specific Nijmegen Pediatric CDG Rating Scale (NPCRS) score for the patient cohort in the systematic review.","is_dataset_classified":null,"base_score":2.302585092994046,"endowment":2.302585092994046,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"38896122","pmcid":null,"openalex_id":"https://openalex.org/W4399799426","authors":[],"funders":[{"funder_name":"National Heart, Lung, and Blood Institute","grant_id":"1K08HL141635-01A1","title":"Targeted non-genotoxic hematopoietic stem cell transplant conditioning approach"},{"funder_name":"Atlanta Pediatric Scholars Program K12 Scholar","grant_id":"K12HD072245 and U54AI082973","title":null},{"funder_name":"NICHD NIH HHS","grant_id":"K12 HD072245","title":null},{"funder_name":"National Institutes of Health","grant_id":"5U54AI082973-12","title":"Primary Immune Deficiency Treatment Consortium"},{"funder_name":"National Institutes of Health","grant_id":"3K12HD072245-05S1","title":"Atlanta Pediatric Scholars Program"}],"total_grants":5,"fwci":1.6507,"citation_percentile":0.80715706,"influential_citations":0,"citation_trend":[{"year":2025,"count":3},{"year":2026,"count":6}],"oa_status":"closed","license":"Springer Nature TDM","oa_locations":[{"url":"https://link.springer.com/content/pdf/10.1007/s10875-024-01749-y.pdf","host_type":"publisher"},{"url":"https://link.springer.com/article/10.1007/s10875-024-01749-y/fulltext.html","host_type":"publisher"},{"url":"https://doi.org/10.1007/s10875-024-01749-y","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/38896122","host_type":"repository"}],"fields_of_study":["Immune Cell Function and Interaction","Autoimmune and Inflammatory Disorders Research","Immunodeficiency and Autoimmune Disorders"],"mesh_terms":["Herpesvirus 4, Human","Hodgkin Disease","Humans","Male","Recurrence","Hematopoietic Stem Cell Transplantation","Epstein-Barr Virus Infections","Cation Transport Proteins","Lymphohistiocytosis, Hemophagocytic"],"keywords":["Hemophagocytic lymphohistiocytosis","Immune dysregulation","Immunology","Hodgkin's lymphoma","Medicine","Immunodeficiency","Disease","Lymphoma","Immune system","Internal medicine","Hlh","Magt1","Ebv Lymphoma","Xmen","Male","Epstein-Barr Virus Infections","Herpesvirus 4, Human","Recurrence","Hematopoietic Stem Cell Transplantation","Humans","Cation Transport Proteins","Hodgkin Disease","Lymphohistiocytosis, Hemophagocytic"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-18T16:22:21.696135Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}